Linked Data
dbSNP Id:
rs2143234978
gnomAD v4:
17-39727327-G-A
MyVariant Identifiers:
chr17:g.37883580G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727327G>A , CM000679.2:g.39727327G>A | GRCh38 |
| NC_000017.10:g.37883580G>A , CM000679.1:g.37883580G>A | GRCh37 |
| NC_000017.9:g.35137106G>A | NCBI36 |
| NG_007503.1:g.44188G>A , LRG_724:g.44188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3192G>A MANE Select | ENSP00000269571.4:p.Glu1064= | |
| ENST00000269571.9:c.3192G>A | ENSP00000269571.4:p.Glu1064= | |
| ENST00000406381.6:c.3102G>A | ENSP00000385185.2:p.Glu1034= | |
| ENST00000445658.6:c.2364G>A | ENSP00000404047.2:p.Glu788= | |
| ENST00000541774.5:c.3147G>A | ENSP00000446466.1:p.Glu1049= | |
| ENST00000578373.5:c.*2982G>A | ENSP00000463427.1:n.*2982G>A | |
| ENST00000584450.5:c.3159+324G>A | ENSP00000463714.1:n.3159+324G>A | |
| ENST00000584601.5:c.3102G>A | ENSP00000462438.1:p.Glu1034= | |
| NM_001005862.2:c.3102G>A , LRG_724t1:c.3102G>A | NP_001005862.1:p.Glu1034= | |
| NM_001289936.1:c.3147G>A , LRG_724t4:c.3147G>A | NP_001276865.1:p.Glu1049= | |
| NM_001289937.1:c.3159+324G>A | NP_001276866.1:n.3159+324G>A | |
| NM_004448.3:c.3192G>A , LRG_724t2:c.3192G>A | NP_004439.2:p.Glu1064= | |
| NR_110535.1:n.3516G>A | ||
| XM_024450641.1:c.3330G>A | XP_024306409.1:p.Glu1110= | |
| XM_024450642.1:c.3285G>A | XP_024306410.1:p.Glu1095= | |
| XM_024450643.1:c.3240G>A | XP_024306411.1:p.Glu1080= | |
| NM_001005862.3:c.3102G>A | NP_001005862.1:p.Glu1034= | |
| NM_001289936.2:c.3147G>A | NP_001276865.1:p.Glu1049= | |
| NM_001289937.2:c.3159+324G>A | NP_001276866.1:n.3159+324G>A | |
| NM_001382782.1:c.3102G>A | NP_001369711.1:p.Glu1034= | |
| NM_001382783.1:c.3102G>A | NP_001369712.1:p.Glu1034= | |
| NM_001382784.1:c.3309G>A | NP_001369713.1:p.Glu1103= | |
| NM_001382785.1:c.3294G>A | NP_001369714.1:p.Glu1098= | |
| NM_001382786.1:c.3273G>A | NP_001369715.1:p.Glu1091= | |
| NM_001382787.1:c.3267G>A | NP_001369716.1:p.Glu1089= | |
| NM_001382788.1:c.3222G>A | NP_001369717.1:p.Glu1074= | |
| NM_001382789.1:c.3213G>A | NP_001369718.1:p.Glu1071= | |
| NM_001382790.1:c.3189G>A | NP_001369719.1:p.Glu1063= | |
| NM_001382791.1:c.3183G>A | NP_001369720.1:p.Glu1061= | |
| NM_001382792.1:c.3156G>A | NP_001369721.1:p.Glu1052= | |
| NM_001382793.1:c.3150G>A | NP_001369722.1:p.Glu1050= | |
| NM_001382794.1:c.3150G>A | NP_001369723.1:p.Glu1050= | |
| NM_001382795.1:c.3144G>A | NP_001369724.1:p.Glu1048= | |
| NM_001382796.1:c.3105G>A | NP_001369725.1:p.Glu1035= | |
| NM_001382797.1:c.3093G>A | NP_001369726.1:p.Glu1031= | |
| NM_001382798.1:c.3036G>A | NP_001369727.1:p.Glu1012= | |
| NM_001382799.1:c.3012G>A | NP_001369728.1:p.Glu1004= | |
| NM_001382800.1:c.3006G>A | NP_001369729.1:p.Glu1002= | |
| NM_001382801.1:c.2988G>A | NP_001369730.1:p.Glu996= | |
| NM_001382802.1:c.2934G>A | NP_001369731.1:p.Glu978= | |
| NM_001382803.1:c.3117+324G>A | NP_001369732.1:n.3117+324G>A | |
| NM_001382804.1:c.2364G>A | NP_001369733.1:p.Glu788= | |
| NM_001382805.1:c.2241G>A | NP_001369734.1:p.Glu747= | |
| NM_001382806.1:c.2154G>A | NP_001369735.1:p.Glu718= | |
| NM_004448.4:c.3192G>A MANE Select | NP_004439.2:p.Glu1064= | |
| NR_110535.2:n.3430G>A |